Canonical Allele Identifier: CA360377288

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90059150A>C (hg19) ; chr5:g.90763333A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763333A>C , CM000667.2:g.90763333A>C	GRCh38
NC_000005.9:g.90059150A>C , CM000667.1:g.90059150A>C	GRCh37
NC_000005.8:g.90094906A>C	NCBI36
NG_007083.1:g.209534A>C
NG_007083.2:g.238990A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12149A>C MANE Select	ENSP00000384582.2:p.Asp4050Ala
ENST00000425867.3:c.1103A>C	ENSP00000392618.3:p.Asp368Ala
ENST00000639431.1:c.265+87124A>C	ENSP00000491057.1:n.265+87124A>C
ENST00000640464.1:n.2568A>C
ENST00000640729.1:n.726A>C
ENST00000405460.6:c.12149A>C	ENSP00000384582.2:p.Asp4050Ala
NM_032119.3:c.12149A>C	NP_115495.3:p.Asp4050Ala
NR_003149.1:n.12162A>C
XM_011543675.1:c.12146A>C	XP_011541977.1:p.Asp4049Ala
XM_011543676.1:c.12068A>C	XP_011541978.1:p.Asp4023Ala
XM_011543677.1:c.9452A>C	XP_011541979.1:p.Asp3151Ala
XM_011543678.1:c.12149A>C	XP_011541980.1:p.Asp4050Ala
NM_032119.4:c.12149A>C MANE Select	NP_115495.3:p.Asp4050Ala
XM_017009963.2:c.12170A>C	XP_016865452.1:p.Asp4057Ala
XM_017009964.2:c.12167A>C	XP_016865453.1:p.Asp4056Ala
XM_017009965.1:c.12167A>C	XP_016865454.1:p.Asp4056Ala
XM_017009966.2:c.12089A>C	XP_016865455.1:p.Asp4030Ala
XM_017009967.1:c.12074A>C	XP_016865456.1:p.Asp4025Ala
XM_017009968.2:c.12170A>C	XP_016865457.1:p.Asp4057Ala
XM_017009969.2:c.12170A>C	XP_016865458.1:p.Asp4057Ala
XM_017009970.2:c.12170A>C	XP_016865459.1:p.Asp4057Ala
XM_017009971.2:c.12170A>C	XP_016865460.1:p.Asp4057Ala
XM_017009972.1:c.5288A>C	XP_016865461.1:p.Asp1763Ala
XM_017009973.1:c.5267A>C	XP_016865462.1:p.Asp1756Ala
NR_003149.2:n.12165A>C